Canonical Allele Identifier: CA4337416
Community Standard Title: NM_005751.5(AKAP9):c.8112A>C (p.Glu2704Asp)
Gene: AKAP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92082614A>C , CM000669.2:g.92082614A>C GRCh38
NC_000007.13:g.91711928A>C , CM000669.1:g.91711928A>C GRCh37
NC_000007.12:g.91549864A>C NCBI36
NG_011623.1:g.146740A>C , LRG_331:g.146740A>C

Transcript Alleles

HGVS Amino-acid Change
NM_005751.5:c.8112A>C MANE Select NP_005742.4:p.Glu2704Asp
ENST00000356239.8:c.8112A>C MANE Select ENSP00000348573.3:p.Glu2704Asp
NM_001379277.1:c.2757A>C NP_001366206.1:p.Glu919Asp
NM_005751.4:c.8112A>C , LRG_331t1:c.8112A>C NP_005742.4:p.Glu2704Asp
NM_147185.2:c.8088A>C NP_671714.1:p.Glu2696Asp
NM_147185.3:c.8088A>C NP_671714.1:p.Glu2696Asp
ENST00000356239.7:c.8112A>C ENSP00000348573.3:p.Glu2704Asp
ENST00000358100.6:c.7971A>C ENSP00000350813.3:p.Glu2657Asp
ENST00000359028.6:c.8145A>C ENSP00000351922.3:p.Glu2715Asp
ENST00000359028.7:c.8184A>C ENSP00000351922.4:p.Glu2728Asp
ENST00000394534.6:c.1650A>C ENSP00000378042.2:p.Glu550Asp
ENST00000394534.7:c.1605A>C ENSP00000378042.3:p.Glu535Asp
ENST00000491695.2:c.2757A>C ENSP00000494626.2:p.Glu919Asp
ENST00000674381.2:c.*7841A>C ENSP00000501536.2:n.*7841A>C
ENST00000679448.1:c.8088A>C ENSP00000505889.1:p.Glu2696Asp
ENST00000679457.1:c.8088A>C ENSP00000505450.1:p.Glu2696Asp
ENST00000679474.1:n.8310A>C
ENST00000679521.1:c.8058A>C ENSP00000505456.1:p.Glu2686Asp
ENST00000679554.1:c.*7897A>C ENSP00000506415.1:n.*7897A>C
ENST00000679722.1:n.8334A>C
ENST00000679821.1:c.7854A>C ENSP00000506040.1:p.Glu2618Asp
ENST00000680047.1:n.8310A>C
ENST00000680072.1:c.7935A>C ENSP00000506581.1:p.Glu2645Asp
ENST00000680181.1:c.8019A>C ENSP00000505548.1:p.Glu2673Asp
ENST00000680365.1:c.1605A>C ENSP00000506019.1:p.Glu535Asp
ENST00000680513.1:c.7971A>C ENSP00000505284.1:p.Glu2657Asp
ENST00000680534.1:c.8151A>C ENSP00000506674.1:p.Glu2717Asp
ENST00000680766.1:c.8088A>C ENSP00000505204.1:p.Glu2696Asp
ENST00000680952.1:c.8088A>C ENSP00000506407.1:p.Glu2696Asp
ENST00000681216.1:c.1605A>C ENSP00000505551.1:p.Glu535Asp
ENST00000681412.1:c.8112A>C ENSP00000506486.1:p.Glu2704Asp
ENST00000681722.1:c.8088A>C ENSP00000506566.1:p.Glu2696Asp
XM_006715827.1:c.7971A>C XP_006715890.1:p.Glu2657Asp
XM_011515709.1:c.8259A>C XP_011514011.1:p.Glu2753Asp
XM_011515710.1:c.8283A>C XP_011514012.1:p.Glu2761Asp
XM_011515711.1:c.8223A>C XP_011514013.1:p.Glu2741Asp
XM_011515712.1:c.8220A>C XP_011514014.1:p.Glu2740Asp
XM_011515713.1:c.8205A>C XP_011514015.1:p.Glu2735Asp
XM_011515714.1:c.8244A>C XP_011514016.1:p.Glu2748Asp
XM_011515716.1:c.8163A>C XP_011514018.1:p.Glu2721Asp
XM_011515717.1:c.8118A>C XP_011514019.1:p.Glu2706Asp
XM_011515718.1:c.8148A>C XP_011514020.1:p.Glu2716Asp
XM_011515719.1:c.8124A>C XP_011514021.1:p.Glu2708Asp
XM_011515720.1:c.8007A>C XP_011514022.1:p.Glu2669Asp
XM_011515721.1:c.2772A>C XP_011514023.1:p.Glu924Asp
XM_011515722.1:c.2733A>C XP_011514024.1:p.Glu911Asp
XM_017011642.2:c.8247A>C XP_016867131.1:p.Glu2749Asp
XM_017011643.2:c.8208A>C XP_016867132.1:p.Glu2736Asp
XM_017011644.2:c.8247A>C XP_016867133.1:p.Glu2749Asp
XM_017011645.2:c.8193A>C XP_016867134.1:p.Glu2731Asp
XM_017011646.2:c.8208A>C XP_016867135.1:p.Glu2736Asp
XM_017011647.2:c.8154A>C XP_016867136.1:p.Glu2718Asp
XM_017011648.2:c.8151A>C XP_016867137.1:p.Glu2717Asp
XM_017011649.2:c.8184A>C XP_016867138.1:p.Glu2728Asp
XM_017011650.2:c.8112A>C XP_016867139.1:p.Glu2704Asp
XM_017011651.2:c.8106A>C XP_016867140.1:p.Glu2702Asp
XM_017011652.2:c.8247A>C XP_016867141.1:p.Glu2749Asp
XM_017011653.2:c.8019A>C XP_016867142.1:p.Glu2673Asp
XM_017011654.2:c.7971A>C XP_016867143.1:p.Glu2657Asp
XM_017011655.2:c.7875A>C XP_016867144.1:p.Glu2625Asp
XM_017011656.2:c.7875A>C XP_016867145.1:p.Glu2625Asp
XM_017011657.2:c.3912A>C XP_016867146.1:p.Glu1304Asp
XM_017011658.2:c.2796A>C XP_016867147.1:p.Glu932Asp
XM_017011659.2:c.2757A>C XP_016867148.1:p.Glu919Asp
XM_017011660.2:c.2757A>C XP_016867149.1:p.Glu919Asp
XM_024446631.1:c.8010A>C XP_024302399.1:p.Glu2670Asp